Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs367737727
rs367737727
EVL
1 1.000 0.080 14 100128600 missense variant C/T snv 1.1E-05 0.700 0
dbSNP: rs773205136
rs773205136
LONRF2
1 1.000 0.080 2 100294302 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs7849
rs7849
SCD
1 1.000 0.080 10 100362846 3 prime UTR variant T/C;G snv 0.020 1.000 2 2012 2012
dbSNP: rs10165970
rs10165970
NPAS2
18 0.708 0.320 2 100840527 intron variant G/A snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs17024869
rs17024869
NPAS2
18 0.708 0.320 2 100843581 intron variant T/C snv 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs895520
rs895520
NPAS2
23 0.689 0.320 2 100961475 intron variant G/A snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs7581886
rs7581886
NPAS2
18 0.708 0.320 2 100964784 intron variant C/T snv 0.92 0.010 1.000 1 2017 2017
dbSNP: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.050 0.800 5 2012 2018
dbSNP: rs367898512
rs367898512
LZTS2
1 1.000 0.080 10 101002900 missense variant G/A snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs2281611
rs2281611
MEG8 ; MIR495
2 0.925 0.080 14 101033612 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs369664812
rs369664812
ZNHIT1
1 1.000 0.080 7 101223799 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs34713741
rs34713741
SELENOS
3 0.882 0.280 15 101277671 upstream gene variant C/A;T snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1419316960
rs1419316960
DNMT1
2 0.925 0.080 19 10166651 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2186607
rs2186607
TRPC6
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs823920
rs823920 		2 0.925 0.080 9 101900303 intergenic variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs990101456
rs990101456
LDB1
1 1.000 0.080 10 102109138 missense variant C/T snv 0.700 0
dbSNP: rs537292284
rs537292284
PPRC1
1 1.000 0.080 10 102133102 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs35060588
rs35060588
IRAK2
2 0.925 0.080 3 10213318 missense variant C/G;T snv 5.5E-02; 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs1215486792
rs1215486792
MOK
2 0.925 0.080 14 102229572 missense variant C/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1287689842
rs1287689842
CUX1
1 1.000 0.080 7 102281843 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs11704
rs11704
CINP ; ZNF839
2 0.925 0.080 14 102342318 3 prime UTR variant G/C snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
7 0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.030 1.000 3 2010 2014